Rosemary V. Sampogna, M.D., PhD

CureGN Pilot Project Grant Award

Dr. Sampogna is an Associate Professor in the Division of Nephrology at Columbia University Irving Medical Center / Vagelos College of Medicine in New York. Her research is focused on the molecular and genetic mechanisms that specify kidney architecture and ultimately determine function, on the role of cadherins during nephrogenesis, and on the role of the circadian clock as a developmental timer that determines the rate of branching and organogenesis. More recently, her work has been directed at studying the functional consequences of human mutations using vertebrate and cellular models, including patient-derived induced pluripotent stem cells (iPSC) and organoids.

New York

Columbia University Irving Medical Center/Vagelos College of Medicine in New York

Lay Summary of the Project:

With the support of the NephCure – CureGN Pilot Project Grant Award we plan to generate a panel of iPSCs derived from CureGN participants who carry mutations in FSGS Mendelian genes. These cell lines will allow us to generate patient-specific kidney organoids. These models will allow to study the effect of mutations of key regulatory genes for podocyte development, structure, and function in the patient’s genomic and epigenomic context. We hope that our studies will help develop new therapeutic approaches for these devastating conditions.

Update: Dr. Sanna-Cherchi and Dr. Sampogna, with this support, have generated patient-derived induced pluripotent stem cells (iPSCs) from children and young adults carrying causal variants in FSGS-associated genes such as TRIM8, TRPC6 and others. They are studying the effect of these variants in iPSC-derived 3D kidney organoids using a multiomic approach that leverages on simultaneous interrogation of single nucleus transcriptomic and open chromatin signatures, coupled with proteomics studies. The ultimate goals of this project are to identify gene-specific molecular mechanisms that might lead to precise drug targeting approaches.

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